A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387077



Internal ID22444947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75095749..75096619hg38UCSC Ensembl
chr17:73091844..73092714hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38871
hg19871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944378
Supporting Variants
Samples
Known GenesSLC16A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387077
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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